| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254330G>A | CA124554 | HBG2 | c.277C>T (p.His93Tyr) c.112C>T (p.His38Tyr) c.247C>T (p.His83Tyr) c.*146C>T (n.*146C>T) c.78G>A (p.Val26=) | ClinVar dbSNP |
| 11 | g.5254330G= | CA1949577281 | HBG2 | c.277C= (p.His93=) c.112C= (p.His38=) c.247C= (p.His83=) c.*146C= (n.*146C=) c.78G= (p.Val26=) | dbSNP |